OBO ID: DOID:0111553
Term Name: spondyloepiphyseal dysplasia Maroteaux type Search Ontology:
Synonyms:
  • Brachyolmia Type 2
  • Pseudo-Morquio syndrome type 2
  • SED, Maroteaux type
  • spondyloepiphyseal dysplasia of Maroteaux
Definition: An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. (2)
References:
  • GARD:994
  • OMIM:184095
  • ORDO:263482
  • SNOMEDCT_US_2023_03_01:719204007
  • UMLS_CUI:C3159322
Ontology: Human Disease   ( DOID:0111553 )
OTHER spondyloepiphyseal dysplasia Maroteaux type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TRPV4 SED, Maroteaux type 184095
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None